Inactivating BRIP1 Gene Mutation

Preferred Label : Inactivating BRIP1 Gene Mutation;

NCIt synonyms : BRIP1 Inactivating Gene Mutation; Inactivating BRCA1 Interacting Protein C-Terminal Helicase 1 Gene Mutation; Loss of Function FANCJ Gene Mutation; Loss of Function BRIP1 Gene Mutation; BRIP1 Loss of Function Gene Mutation; BRIP1 Inactivating Mutation; Inactivating BACH1 Gene Mutation; Inactivating BRIP1 Mutation; Inactivating FANCJ Mutation; BRIP1 Loss of Function Mutation; BRIP1 Gene Inactivation; BRIP1 Inactivation; Inactivating FANCJ Gene Mutation; Loss of Function BRIP1 Mutation;

NCIt definition : A mutation in the BRIP1 gene that either inhibits the expression of or results in the translation of an inactive Fanconi anemia group J protein.;

NCI Metathesaurus CUI : CL1412737;

Details

Origin ID

C175396;

UMLS CUI

C5446490;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- BRIP1 Gene [NCIt concept]
- DNA Repair Gene [NCIt concept]
- FA Complementation Group Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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